Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins

Autor: Joshua Linnert, Barbara Knapp, Baran E. Güler, Karsten Boldt, Marius Ueffing, Uwe Wolfrum

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

The human Usher syndrome (USH) is the most common form of a sensory hereditary ciliopathy characterized by progressive vision and hearing loss. Mutations in the genes ADGRV1 and CIB2 have been associated with two distinct sub-types of USH, namely, US

Externí odkaz: https://doaj.org/article/b051c4e7f75a4dd8b3aa8b33d9c8634b

Putative Causal Variant on Vlgr1 for the Epileptic Phenotype in the Model Wistar Audiogenic Rat

Autor: Samara Damasceno, Pablo Augusto de Souza Fonseca, Izinara Cruz Rosse, Márcio Flávio Dutra Moraes, José Antônio Cortes de Oliveira, Norberto Garcia-Cairasco, Ana Lúcia Brunialti Godard

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

Wistar Audiogenic Rat is an epilepsy model whose animals are predisposed to develop seizures induced by acoustic stimulation. This model was developed by selective reproduction and presents a consistent genetic profile due to the several generations

Externí odkaz: https://doaj.org/article/11255f07bfc04e52809d3a4280cc6dcb

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

Autor: José-Alain Sahel, Saddek Mohand-Said, Isabelle Audo, Crystel Bonnet, Eberhart Zrenner, Marko Hawlina, Anne Kurtenbach, Francesca Simonelli, Ditta Zobor, Christine Petit, Katarina Stingl, Francesco Testa, Ana Fakin

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩
Volume 22
Issue 19
International Journal of Molecular Sciences, MDPI, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩
International Journal of Molecular Sciences, Vol 22, Iss 10352, p 10352 (2021)

In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female
median ag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c31a995f3c2daf71b0999ec32011bef1
http://europepmc.org/articles/PMC8509029

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